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Delayed Puberty in Girls with Primary Amenorrhea: A Report of Cases

1Faculty of Medicine, Wahid Hasyim University, Indonesia

2Faculty of Medicine, Universitas Diponegoro, Indonesia

Received: 15 Aug 2021; Published: 31 Aug 2021.
Open Access Copyright (c) 2021 Journal of Biomedicine and Translational Research
Creative Commons License This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

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Abstract

Background:Female puberty starts when the pituitary hormone producing follicle-stimulating hormone (FSH) and luteinizing hormone (LH), which will stimulate the ovaries to produce estrogen. Delayed puberty with primary amenorrhea in female is the lack of breast development followed by the absence of menses 3 years after the initiation of breast development. Sex chromosomes have an important role in determining the sex, germ cell differentiation of foetus, and reproductive functions of an offspring, thus, sex chromosomal aberrations frequently cause primary amenorrhea

Case presentation: We report two delayed puberty cases with the chief complain of primary amenorrhea. Both cases showed hypoplasia of uterus and ovaries on pelvic imaging and hormonal assay showed low of FSH. The first case was gonadal dysgenesis with 46,XX karyotype and low level of estrogen and the second case was a turner syndrome with 45,X karyotype and normal level of estrogen. 

Conclusion:This study reported delayed puberty with primary amenorrhea cases due to different chromosomal aberration pattern which have similar clinical features. Therefore, cytogenetic examination is needed for any primary amenorrhea cases in order to accomplish the confirmatory diagnosis and for the clinicians to make a correct intervention and treatment. 

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Keywords: Delayed Puberty; Primary Amenorrhea; Cytogenetic.

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  1. REFERENCES
  2. Seppä S, Kuiri-Hänninen T, Holopainen E, et al. MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of primary amenorrhea and female delayed puberty. Eur J Endocrinol 2021; 184: R225-r242. 2021/03/10. DOI: 10.1530/eje-20-1487
  3. Gruber CJ, Tschugguel W, Schneeberger C, et al. Production and actions of estrogens. The New England journal of medicine 2002; 346: 340-352. 2002/02/01. DOI: 10.1056/NEJMra000471
  4. Howard SR and Dunkel L. Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries. Endocr Rev 2019; 40: 1285-1317. 2019/06/21. DOI: 10.1210/er.2018-00248
  5. Eaves L, Silberg J, Foley D, et al. Genetic and environmental influences on the relative timing of pubertal change. Twin research : the official journal of the International Society for Twin Studies 2004; 7: 471-481. 2004/11/06. DOI: 10.1375/1369052042335278
  6. Cousminer DL, Stergiakouli E, Berry DJ, et al. Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. Human molecular genetics 2014; 23: 4452-4464. 2014/04/29. DOI: 10.1093/hmg/ddu150
  7. Supornsilchai V, Jantarat C, Nosoognoen W, et al. Increased levels of bisphenol A (BPA) in Thai girls with precocious puberty. Journal of pediatric endocrinology & metabolism : JPEM 2016; 29: 1233-1239. 2016/01/27. DOI: 10.1515/jpem-2015-0326
  8. Howard SR and Dunkel L. The Genetic Basis of Delayed Puberty. Neuroendocrinology 2018; 106: 283-291. 2017/09/20. DOI: 10.1159/000481569
  9. Varimo T, Miettinen PJ, Känsäkoski J, et al. Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center. Human reproduction (Oxford, England) 2017; 32: 147-153. 2016/12/09. DOI: 10.1093/humrep/dew294
  10. Latronico AC, Brito VN and Carel JC. Causes, diagnosis, and treatment of central precocious puberty. The lancet Diabetes & endocrinology 2016; 4: 265-274. 2016/02/08. DOI: 10.1016/s2213-8587(15)00380-0
  11. García-Acero M, Moreno O, Suárez F, et al. Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach. Current urology 2020; 13: 169-178. 2020/01/31. DOI: 10.1159/000499274
  12. Soltani N, Mirzaei F and Ayatollahi H. Cytogenetic Study of Patients with Primary Amenorrhea in The Northeast of Iran. Iranian Journal of Pathology 2021; 16: 57-61
  13. Pal AK, Ambulkar PS, Sontakke BR, et al. A Study on Chromosomal Analysis of Patients with Primary Amenorrhea. Journal of human reproductive sciences 2019; 12: 29-34. 2019/04/23. DOI: 10.4103/jhrs.JHRS_125_17
  14. Current evaluation of amenorrhea. Fertility and sterility 2008; 90: S219-225. 2008/11/26. DOI: 10.1016/j.fertnstert.2008.08.038
  15. Dutta UR, Ponnala R, Pidugu VK, et al. Chromosomal Abnormalities in Amenorrhea : A Retrospective Study and Review of 637 Patients in South India. Archives of Iranian Medicine 2013; 16: 267-270
  16. Festa A, Umano GR, Miraglia Del Giudice E, et al. Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration? Frontiers in endocrinology 2020; 11: 253. 2020/06/09. DOI: 10.3389/fendo.2020.00253
  17. Shah VN, Ganatra PJ, Parikh R, et al. Coexistence of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome in 46, XX female: A case report and review of literature. Indian J Endocrinol Metab 2013; 17: S274-277. 2013/11/20. DOI: 10.4103/2230-8210.119605
  18. Hughes HK, Mendley S, Cooke D, et al. Case 2: Delayed Puberty in a 15-year-old Girl. Pediatrics in review 2020; 41: 485-488. 2020/09/03. DOI: 10.1542/pir.2018-0275
  19. Ghaffari F, Keikha F and Arabipoor A. A rare case of primary amenorrhea with two etiologies, hypothalamic amenorrhea, transverse vaginal septum, and no hematocolpos. Case Rep Obstet Gynecol 2015; 2015: 989123. 2015/03/19. DOI: 10.1155/2015/989123
  20. Klein DA, Emerick JE, Sylvester JE, et al. Disorders of Puberty: An Approach to Diagnosis and Management. American family physician 2017; 96: 590-599. 2017/11/03
  21. Roly ZY, Backhouse B, Cutting A, et al. The cell biology and molecular genetics of Müllerian duct development. Wiley interdisciplinary reviews Developmental biology 2018; 7: e310. 2018/01/20. DOI: 10.1002/wdev.310
  22. Tryggestad JB and Chernausek SD. BMI changes through childhood: the impact on puberty, linear growth and hormonal regulation. Pediatric research 2020; 88: 11-13. 2020/04/17. DOI: 10.1038/s41390-020-0903-9
  23. Gravholt CH, Viuff MH, Brun S, et al. Turner syndrome: mechanisms and management. Nature reviews Endocrinology 2019; 15: 601-614. 2019/06/20. DOI: 10.1038/s41574-019-0224-4
  24. Morgan T. Turner syndrome: diagnosis and management. American family physician 2007; 76: 405-410. 2007/08/22
  25. Cui X, Cui Y, Shi L, et al. A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment. Intractable Rare Dis Res 2018; 7: 223-228. 2018/12/19. DOI: 10.5582/irdr.2017.01056
  26. Lee YL and Wu LL. Clinical Features of Girls with Turner Syndrome in a Single Centre in Malaysia. J ASEAN Fed Endocr Soc 2019; 34: 22-28. 2019/01/01. DOI: 10.15605/jafes.034.01.05
  27. Formosa N, Buttigieg M and Torpiano J. Congenital brachymetatarsia and Turner syndrome. Arch Dis Child 2016; 101: 332. 2015/11/20. DOI: 10.1136/archdischild-2015-309707
  28. Donato B and Ferreira MJ. Cardiovascular risk in Turner syndrome. Revista portuguesa de cardiologia 2018; 37: 607-621. 2018/06/06. DOI: 10.1016/j.repc.2017.08.008
  29. Dulac Y, Pienkowski C, Abadir S, et al. Cardiovascular abnormalities in Turner's syndrome: what prevention? Archives of cardiovascular diseases 2008; 101: 485-490. 2008/10/14. DOI: 10.1016/j.acvd.2008.05.007
  30. Ramírez J. Turner syndrome case presentation. Journal of Cardiology & Current Research 2018; 11: 221-223. DOI: 10.15406/jccr.2018.11.00403
  31. GS A, KK T and Geetha S. A Clinical Study of Primary Amenorrhea. J South Asian Feder Obst Gynae 2015; 7: 158-166

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